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HSPD1 Gene

protein-coding   GIFtS: 71
GCID: GC02M198315

Heat Shock 60kDa Protein 1 (Chaperonin)

(Previous names: heat shock 60kD protein 1 (chaperonin), spastic paraplegia...)
(Previous symbol: SPG13)
  See HSPD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Heat Shock 60kDa Protein 1 (Chaperonin)1 2     HLD42 5
SPG131 2 5     Heat Shock 60kD Protein 1 (Chaperonin)1
HSP602 3 5     Spastic Paraplegia 13 (Autosomal Dominant)1
Chaperonin 602 3     60 KDa Heat Shock Protein, Mitochondrial2
Mitochondrial Matrix Protein P12 3     GROEL2
60 KDa Chaperonin2 3     HSP652
CPN602 3     Heat Shock Protein 652
HSP-602 3     Short Heat Shock Protein 60 Hsp60s12
HuCHA602 3     Hsp603
P60 Lymphocyte Protein2 3     Heat Shock Protein 603

External Ids:    HGNC: 52611   Entrez Gene: 33292   Ensembl: ENSG000001443817   OMIM: 1181905   UniProtKB: P108093   

Export aliases for HSPD1 gene to outside databases

Previous GC identifers: GC12M056909 GC02M197063 GC02M198553 GC02M198176 GC02M198059 GC02M190203


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HSPD1 Gene:
This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling
molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported
proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes
functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript
variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause
autosomal recessive spastic paraplegia 13. (provided by RefSeq, Jun 2010)

GeneCards Summary for HSPD1 Gene:
HSPD1 (heat shock 60kDa protein 1 (chaperonin)) is a protein-coding gene. Diseases associated with HSPD1 include cervicitis, and chancroid. GO annotations related to this gene include single-stranded DNA binding and ATPase activity.

UniProtKB/Swiss-Prot: CH60_HUMAN, P10809
Function: Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct
folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of
unfolded polypeptides generated under stress conditions in the mitochondrial matrix

Gene Wiki entry for HSPD1 (GroEL) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HSPD1 gene promoter:
         c-Fos   AP-1   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): HSPD1 promoter sequence
   Search Chromatin IP Primers for HSPD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSPD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

HSPD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSPD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M198315:  view genomic region     (about GC identifiers)

Start:
198,351,305 bp from pter      End:
198,381,461 bp from pter
Size:
30,157 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CH60_HUMAN, P10809 (See protein sequence)
Recommended Name: 60 kDa heat shock protein, mitochondrial precursor  
Size: 573 amino acids; 61055 Da
Subunit: Interacts with HRAS (By similarity). Interacts with HBV protein X and HTLV-1 protein p40tax. Interacts
with ATAD3A. Interacts with METTL20 and METTL21B
Secondary accessions: B2R5M6 Q38L19 Q9UCR6

Explore the universe of human proteins at neXtProt for HSPD1: NX_P10809

Explore proteomics data for HSPD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys31, Lys58, Lys72, Lys75, Lys82, Lys96, Lys125, Lys130, Lys133, Lys160,
                                 Lys191, Lys218, Lys233, Lys250, Lys292, Lys352, Lys469, Lys481
  • Modification sites at PhosphoSitePlus

  • See HSPD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002147.2  NP_955472.1  

    ENSEMBL proteins: 
     ENSP00000373620   ENSP00000393670   ENSP00000412717   ENSP00000390404   ENSP00000414446  
     ENSP00000396460   ENSP00000402478   ENSP00000412227   ENSP00000340019   ENSP00000441296  
    Reactome Protein details: P10809

    HSPD1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HSPD1 (HSP60)
    Enzo Life Sciences proteins for HSPD1
    OriGene Purified Proteins for HSPD1
    OriGene Protein Over-expression Lysate for HSPD1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for HSPD1
    GenScript Custom Purified and Recombinant Proteins Services for HSPD1
    Novus Biologicals HSPD1 Proteins
    Novus Biologicals HSPD1 Lysates
    Sino Biological Recombinant Protein for HSPD1
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HSPD1
    Cloud-Clone Corp. Proteins for HSPD1

     
    Search eBioscience for Proteins for HSPD1 

     
    antibodies-online proteins for HSPD1 (32 products) 

     
    antibodies-online peptides for HSPD1

    HSPD1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HSPD1
    R&D Systems Antibodies for HSPD1 (HSP60)
    Cell Signaling Technology (CST) Antibodies for HSPD1  (HSP60)
    OriGene Antibodies for HSPD1
    OriGene Custom Antibody Services for HSPD1
    Novus Biologicals HSPD1 Antibodies
    Abcam antibodies for HSPD1
    Cloud-Clone Corp. Antibodies for HSPD1
    ThermoFisher Antibody for HSPD1
    antibodies-online antibodies for HSPD1 (4 products) 

    HSPD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HSPD1
    R&D Systems ELISAs for HSPD1 (HSP60)         (see all)
    GenScript Custom Assay Services for HSPD1
    Enzo Life Sciences assays for HSPD1
    Cloud-Clone Corp. ELISAs for HSPD1
    Cloud-Clone Corp. CLIAs for HSPD1
    Search eBioscience for ELISAs for HSPD1 
    antibodies-online kits for HSPD1 (39 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CHAP: Heat Shock Proteins / Chaperonins

    5 InterPro protein domains:
     IPR027409 GroEL-like_apical_dom
     IPR018370 Chaperonin_Cpn60_CS
     IPR001844 Chaprnin_Cpn60
     IPR002423 Cpn60/TCP-1
     IPR027413 GROEL-like_equatorial

    Graphical View of Domain Structure for InterPro Entry P10809

    ProtoNet protein and cluster: P10809

    1 Blocks protein domain: IPB001844 Chaperonin Cpn60

    UniProtKB/Swiss-Prot: CH60_HUMAN, P10809
    Similarity: Belongs to the chaperonin (HSP60) family


    Find genes that share domains with HSPD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CH60_HUMAN, P10809
    Function: Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct
    folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of
    unfolded polypeptides generated under stress conditions in the mitochondrial matrix

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001530lipopolysaccharide binding IDA17164250
    GO:0002039p53 binding IPI18086682
    GO:0003688DNA replication origin binding ISS--
    GO:0003697single-stranded DNA binding ISS--
    GO:0003725double-stranded RNA binding IDA--
         
    Find genes that share ontologies with HSPD1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for HSPD1:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hspd1):
     behavior/neurological  cellular  embryogenesis  growth/size/body  mortality/aging 
     muscle  nervous system  reproductive system 

    Find genes that share phenotypes with HSPD1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HSPD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HSPD1:
    hsa-mir-214-3p (MIRT024960), hsa-mir-324-5p (MIRT043032), hsa-mir-125b-5p (MIRT045988), hsa-mir-16-5p (MIRT031799), hsa-mir-197-3p (MIRT048142), hsa-mir-1 (MIRT003976), hsa-mir-744-5p (MIRT037397), hsa-mir-331-3p (MIRT043359)

    Block miRNA regulation of human, mouse, rat HSPD1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate HSPD1:
    hsa-miR-146a* hsa-miR-206 hsa-miR-1 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidHSPD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HSPD1
    Predesigned siRNA for gene silencing in human, mouse, rat HSPD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HSPD1

    Clone
    Products:
         
    OriGene clones in human, mouse for HSPD1 (see all 11)
    OriGene ORF clones in mouse, rat for HSPD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HSPD1 (NM_002156)
    Sino Biological Human cDNA Clone for HSPD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPD1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HSPD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for HSPD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPD1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12270) for HSPD1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CH60_HUMAN, P10809: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5
    endosome4
    extracellular4
    chloroplast3
    cytoskeleton2
    endoplasmic reticulum2
    nucleus2
    plasma membrane2
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA18229457
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane ISS--
    GO:0005759mitochondrial matrix TAS17823127

    Find genes that share ontologies with HSPD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HSPD1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Type I diabetes mellitus0.69
    2Deadenylation-dependent mRNA decay
    RNA degradation0.48
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation
    5Tuberculosis
    Tuberculosis


    Find genes that share SuperPaths with HSPD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for HSPD1
        SIDS Susceptibility Pathways
    Validated targets of C-MYC transcriptional activation


    1 Reactome Pathway for HSPD1
        Mitochondrial protein import


    4 Kegg Pathways  (Kegg details for HSPD1):
        RNA degradation
    Type I diabetes mellitus
    Legionellosis
    Tuberculosis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HSPD1 (see all 6): 
              Mitochondria in human mouse rat
              Toll-Like Receptor Signaling Pathway in human mouse rat
              Cellular Stress Responses in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HSPD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HSPD1 (P108091, 2, 3 ENSP000003400194) via UniProtKB, MINT, STRING, and/or I2D (see all 1484)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA5P110212, 3, ENSP000003241734MINT-7945693 MINT-7947479 MINT-4054731 I2D: score=1 STRING: ENSP00000324173
    TMEM11P171522, 3, ENSP000003199924MINT-8152379 MINT-8152405 MINT-8152389 I2D: score=1 STRING: ENSP00000319992
    CCT3P493682, 3, ENSP000003572444MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000357244
    EXOC5O004712, 3, ENSP000003899344MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000389934
    HNRNPH1P319432, 3, ENSP000003491684MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000349168
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002368B cell cytokine production IDA16148103
    GO:0002755MyD88-dependent toll-like receptor signaling pathway IDA16148103
    GO:0002842positive regulation of T cell mediated immune response to tumor cell IDA10663613
    GO:0006200ATP catabolic process ISS--
    GO:0006458'de novo' protein folding ISS--

    Find genes that share ontologies with HSPD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HSPD1 (CH60)

    Selected Novoseek inferred chemical compound relationships for HSPD1 gene (see all 98)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p 277 88.9 23 11734230 (3), 9790880 (2), 11803047 (2), 11086048 (2) (see all 13)
    6-iodoacetamidofluorescein 73.4 4 7829481 (1), 10811634 (1), 7836434 (1)
    omp 2 69.8 8 11777831 (2), 11682533 (1), 11145952 (1), 2205652 (1) (see all 7)
    subreum 69.5 1 7544938 (1)
    cpaf 58.5 5 15557641 (1), 15972540 (1), 18390732 (1)
    atp 50.3 133 11563916 (6), 16178011 (5), 9571049 (4), 8947033 (3) (see all 58)
    ag 85 48.5 4 9218839 (1), 1534074 (1)
    sodium arsenite 42.7 7 12460802 (3), 11497330 (2), 10802388 (1)
    pristane 40 4 2019285 (2), 1299349 (2)
    nonactin 39.1 3 11888933 (1), 8549659 (1)



    Find genes that share compounds with HSPD1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HSPD1 gene (2 alternative transcripts): 
    NM_002156.4  NM_199440.1  

    Unigene Cluster for HSPD1:

    Heat shock 60kDa protein 1 (chaperonin)
    Hs.595053  [show with all ESTs]
    Unigene Representative Sequence: BC047350
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000388968(uc002uui.3 uc010zgx.2 uc010fsm.3) ENST00000491249
    ENST00000482167 ENST00000430176 ENST00000486181 ENST00000452200 ENST00000440114
    ENST00000476746 ENST00000461097 ENST00000426480 ENST00000428204 ENST00000439605
    ENST00000418022 ENST00000345042(uc002uuk.3) ENST00000544407(uc010zgy.1)

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate HSPD1:
    hsa-miR-146a* hsa-miR-206 hsa-miR-1 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidHSPD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HSPD1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HSPD1 (NM_002156)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPD1
    Primer
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    OriGene qPCR primer pairs and template standards for HSPD1
    OriGene qSTAR qPCR primer pairs in human, mouse for HSPD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HSPD1
      QuantiTect SYBR Green Assays in human, mouse, rat HSPD1
      QuantiFast Probe-based Assays in human, mouse, rat HSPD1
    Flow Cytometry
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    Additional mRNA sequence: 

    AK312240.1 BC002676.2 BC003030.1 BC047350.1 BC067082.1 BC073746.1 EU719626.1 M22382.1 
    M34664.1 

    Selected DOTS entries (see all 39):

    DT.100892472  DT.100059902  DT.100059914  DT.100892498  DT.100892452  DT.95221973  DT.92433271  DT.100044974 
    DT.101986431  DT.100892457  DT.100892482  DT.100892453  DT.100892506  DT.100892510  DT.101986229  DT.120816557 
    DT.100892491  DT.102839113  DT.92369927  DT.100892461  DT.75195477  DT.91779153  DT.95221968  DT.95256762 

    Selected AceView cDNA sequences (see all 1780):

    AV706627 BM449860 BG943214 BM802852 AA130632 BP364513 BQ668342 BM469321 
    BM747574 BI899586 BM787279 H96588 AU139620 BM747182 AW276236 BU186889 
    BM472194 AV708106 BP376458 BQ215244 CB116855 BU074790 AA448812 BG564292 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HSPD1 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
    SP1:                                      -                       -           -                                                                                 
    SP2:                                      -                       -           -                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:        -     -     -                 -                                                                                                                     


    ECgene alternative splicing isoforms for HSPD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    HSPD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCAGTGTA
    HSPD1 Expression
    About this image


    HSPD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Adrenal Gland (Endocrine System)    fully expand to see all 3 entries
             adrenal gland ; glandular cells   
             adrenal cortex   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    HSPD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSPD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.595053
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HSPD1 (see all 6): 
              Mitochondria in human mouse rat
              Toll-Like Receptor Signaling Pathway in human mouse rat
              Cellular Stress Responses in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HSPD1 gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hspd11 , 5 heat shock protein 1 (chaperonin)1, 5 90.71(n)1
    97.48(a)1
      1 (28.01 cM)5
    155101  NM_010477.41  NP_034607.31 
     550778355 
    chicken
    (Gallus gallus)
    Aves HSPD11 heat shock 60kDa protein 1 (chaperonin) 82.67(n)
    94.24(a)
      424059  NM_001012916.1  NP_001012934.1 
    lizard
    (Anolis carolinensis)
    Reptilia HSPD16
    heat shock 60kDa protein 1 (chaperonin)
    80(a)
    1 ↔ 1
    GL343436.1(690520-708494)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041192.12   -- 80.1(n)    BC041192.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC044557.12   -- 75.5(n)   282676  BC044557.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hsp601 , 3 protein folding heat shock protein3
    Heat shock protein 601
    73(a)
    (best of 4)3
    63.16(n)1
    74.46(a)1
      1 10A43
    320451  NM_078560.31  NP_511115.21 
    worm
    (Caenorhabditis elegans)
    Secernentea hsp-601 hsp-60 63.72(n)
    71.82(a)
      175316  NM_065028.7  NP_497429.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HSP60(YLR259C)4
    HSP601
    Tetradecameric mitochondrial chaperonin required for more4
    HSP601
    60.54(n)1
    57.6(a)1
      12(665002-663284)4
    8509631, 4  NP_013360.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HSP601 HSP60 62.64(n)
    59.52(a)
      821983  NM_113304.4  NP_189041.1 
    rice
    (Oryza sativa)
    Liliopsida AK119623.12   -- 71.84(n)    AK119623.1 


    ENSEMBL Gene Tree for HSPD1 (if available)
    TreeFam Gene Tree for HSPD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HSPD1 gene

    Find genes that share paralogs with HSPD1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for HSPD1 (see all 20)
    PGOHUM00000242884 PGOHUM00000239312 PGOHUM00000239642 PGOHUM00000239809 PGOHUM00000248368


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HSPD1 (see all 393)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0267484
    Spastic paraplegia 13, autosomal dominant (SPG13)4--see VAR_0267482 V I mis40--------
    VAR_0547854
    Leukodystrophy, hypomyelinating, 4 (HLD4)4--see VAR_0547852 D G mis40--------
    rs664685411,2
    Cpathogenic1197751162(-) AACTTG/ATTCAA 4 /I /V mis14Minor allele frequency- A:0.00EU 1082
    rs724664511,2
    Cpathogenic1197752650(-) CAAAGA/GTGTAA 4 D G mis10--------
    rs1485171241,2
    C--190207538(+) GTTTT-/TGTGTGT 2 -- int10--------
    rs350391191,2
    C--190207539(+) TTTTT-/GT/TG 
            
    GTGTT
    2 -- int10--------
    rs343142241,2
    C--190211671(+) AAGCACT/-GTTTT 2 -- int13Minor allele frequency- -:0.00CSA 10
    rs32148321,2
    C--190211732(+) TCAAA-/CTTTTGATCAT
    AAGATAACTCAAA
    ATTAT
    2 -- int10--------
    rs1845937071,2
    --197739988(+) TTAAAC/TGTACA 2 -- ds50010--------
    rs1505931681,2
    C--197740035(+) AATAGA/TTCCTT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for HSPD1 (198351305 - 198381461 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HSPD1: --
    Human Gene Mutation Database (HGMD): HSPD1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HSPD1
    DNA2.0 Custom Variant and Variant Library Synthesis for HSPD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 118190   
    OMIM disorders: 605280  612233  
    UniProtKB/Swiss-Prot: CH60_HUMAN, P10809
  • Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233]: A severe autosomal recessive hypomyelinating
    leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia,
    neurologic regression, motor impairment, profound mental retardation. Death usually occurs within the first two
    decades of life. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for HSPD1:    
    About MalaCards
    cervicitis    chancroid    leukodystrophy, hypomyelinating, 4    spastic paraplegia 13, autosomal dominant
    vulvovaginitis    pelvic inflammatory disease    trachoma    spastic paraplegia 13
    urethritis    sennetsu fever    salpingitis    mycobacterium fortuitum
    mycobacterium gordonae    tic disorder    paracoccidioidomycosis    connective tissue disease
    paraplegia    kawasaki disease    behcet's disease    atherosclerosis

    12 diseases from the University of Copenhagen DISEASES database for HSPD1:
    Tuberculosis     Atherosclerosis     Arthritis     Trachoma
    Sennetsu fever     Pelvic inflammatory disease     Periodontitis     Hypersensitivity reaction type II disease
    Infertility     Chancroid     Heart disease     Diabetes mellitus

    Find genes that share disorders with HSPD1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HSPD1 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 92.1 1197 9568442 (7), 9161695 (6), 8748246 (6), 17435608 (6) (see all 99)
    autoimmune diseases 62 39 16320351 (2), 11048656 (2), 1812994 (2), 8255671 (2) (see all 30)
    autoimmunity 61.8 43 10231007 (2), 11591125 (2), 11086048 (2), 10047432 (2) (see all 30)
    chlamydial infection 61.6 12 11439151 (2), 9194641 (1), 15557641 (1), 11491147 (1) (see all 9)
    atherosclerosis 61.3 95 14627203 (3), 17097662 (3), 16116071 (3), 10948094 (2) (see all 53)
    tuberculosis 60.2 116 16575116 (5), 15315155 (4), 7779853 (3), 9000482 (3) (see all 54)
    mimicry 57.1 19 7913951 (3), 8738959 (1), 18642672 (1), 9000482 (1) (see all 12)
    arthritis 56.5 71 1937534 (4), 19800761 (3), 17082575 (2), 7945471 (2) (see all 44)
    carotid atherosclerosis 54.9 15 8093914 (2), 8675620 (1), 16254226 (1), 8902159 (1) (see all 10)
    arthritis reactive 52.1 5 9328119 (2), 10640771 (2), 7693941 (1)

    Genetic Association Database (GAD): HSPD1
    Human Genome Epidemiology (HuGE) Navigator: HSPD1 (8 documents)

    Export disorders for HSPD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HSPD1 gene, integrated from 10 sources (see all 1163):
    (articles sorted by number of sources associating them with HSPD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. (PubMed id 11898127)1, 2, 3 Hansen J.J....Bross P. (Am. J. Hum. Genet. 2002)
    2. Nucleotide sequences and novel structural features of human and Chinese hamster hsp60 (chaperonin) gene families. (PubMed id 1980192)1, 2, 3 Venner T.J.... Gupta R.S. (DNA Cell Biol. 1990)
    3. Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. (PubMed id 12483302)1, 2, 9 Hansen J.J.... Gregersen N. (Hum. Genet. 2003)
    4. Genetic variation in heat shock protein 60 gene and coronary heart disease in China: tagging-SNP haplotype analysis in a case-control study. (PubMed id 18320357)1, 4, 9 He M.A....Wu T. (amp 2008)
    5. HSPD1 is not a major susceptibility gene for rheumatoid arthritis in the French Caucasian population. (PubMed id 17925998)1, 4, 9 Jacq L....CornAclis F. (J. Hum. Genet. 2007)
    6. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1, 2 Cloutier P.... Coulombe B. (PLoS Genet. 2013)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. (PubMed id 19336475)1, 4 Drenos F....Hingorani A.D. (Hum. Mol. Genet. 2009)
    9. Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. (PubMed id 18571143)1, 2 Magen D.... Mandel H. (Am. J. Hum. Genet. 2008)
    10. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PubMed id 17420921)1, 4 DeLuca G.C....Ebers G.C. (J. Neurol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3329 HGNC: 5261 AceView: HSPD1 Ensembl:ENSG00000144381 euGenes: HUgn3329
    ECgene: HSPD1 Kegg: 3329 H-InvDB: HSPD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HSPD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HSPD1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HSPD1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HSPD1 gene:
    Search GeneIP for patents involving HSPD1

    Licensable Technologies for HSPD1 gene:
    Weizmann Institute:Novel Treatment of Arthritis by Specific Modulation of the Immune Response Using Peptides or DNA Sequences Derived From HSP60    (see all 3)
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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